Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.P20_L21insFs

PAX6

773 papers

RefSeq Summary

This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, th...

Pfam Domains

PAXaa 4–128UCSC'Paired box' domain
Homeodomainaa 211–267UCSCHomeodomain

Gene Aliases

HGNC Name

paired box 6

HGNC Previous Symbols

AN1; AN2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001368894.2
p.P20_L21insFs
c.60_61ins5
Surrounding Variants
1 paper
NM_001368894.2
p.L21L
c.61C>T
1 paper
NM_001368894.2
p.P20L
c.59C>T
1 paper
NM_001368894.2
p.L21V
c.61C>G
1 paper
NM_001368894.2
p.P20R
c.59C>G
1 paper
NM_001368894.2
p.L21M
c.61C>A
1 paper
NM_001368894.2
p.P20Q
c.59C>A
1 paper
NM_001368894.2
p.L21R
c.62T>G
2 papers
NM_001368894.2
p.L21P
c.62T>C
1 paper
NM_001368894.2
p.L21Q
c.62T>A
1 paper
NM_001368894.2
p.N17_L21delFs
c.49_61del13
5 papers
NM_001368894.2
p.P20S
c.58C>T
1 paper
NM_001368894.2
p.P20A
c.58C>G
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